1/30. An autopsy case of myotonic dystrophy with mental disorders and various neuropathologic features.An autopsy case of myotonic dystrophy (MD) is reported. The patient was a 58-year-old male. He presented with muscular weakness and muscular atrophy at the age of 33 and was diagnosed as having MD from myotonic symptoms (i.e. percussion and grip myotonia) at 49 years old. mental disorders including a delusional hallucinatory state, mental slowness, indifference, and lack of spontaneity as well as visual cognitive impairments were noted at the age of 55. He showed Parkinsonism and died of septic shock. T2-weighted magnetic resonance imaging demonstrated diffuse cortical atrophy with a marked frontal atrophy and high-intensity signals in the white matter. Single photon emission computed tomography demonstrated hypoperfusion in the frontal cortex. Neuropathologic observation revealed neuronal loss in the superficial layer of the frontal and parietal cortices and extensive neuronal loss in the occipital cortex, intracytoplasmic inclusion body in the nerve cell of the medial thalamic nuclei, neuronal loss and presence of lewy bodies in the substantia nigra and locus ceruleus corresponding to the pathologic features of Parkinson's disease, as well as abnormalities of myelin in the white matter. The present case suggests that in MD brain, various neuropathologic changes may occur and they contribute to the mental disorders.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/30. Fatal poisoning from liquid dimethylmercury: a neuropathologic study.Since ancient times, mercury has been recognized as a toxic substance. Dimethylmercury, a volatile liquid organic mercury compound, is used by a small number of chemistry laboratories as a reference material in nuclear magnetic resonance spectroscopy. To our knowledge, dimethylmercury has been reported in only three cases of human poisoning, each proving fatal. Very small amounts of this highly toxic chemical can result in devastating neurological damage and death. We report the neuropathologic findings in a fatal case of dimethylmercury intoxication occurring in a laboratory researcher that resulted from a small accidental spill. We compare these findings to those reported in one previously reported fatal case of dimethylmercury poisoning, and to earlier reports of monomethylmercury poisoning, and discuss the clinicopathologic correlation.- - - - - - - - - - ranking = 0.032479901326017keywords = organ (Clic here for more details about this article) |
3/30. Idiopathic intracranial hypertension: a case report with optic nerve histopathology.We present the clinical and pathologic findings in an atypical case of idiopathic intracranial hypertension. A 51-year-old man had headaches, visual deterioration, papilloedema, and deafness. neuroimaging was normal, and cerebrospinal fluid pressure monitoring confirmed increased intracranial pressure. The patient was treated with a ventriculo-peritoneal shunt. Histopathology revealed grossly atrophic optic nerves with almost complete axonal loss. The prelaminar portion of the optic nerves was thickened by gliosis and hyalinized capillaries, which have not been described previously.- - - - - - - - - - ranking = 6keywords = nerve (Clic here for more details about this article) |
4/30. "Dual pathology" and the significance of surgical outcome in "Dostoewsky's epilepsy".A patient with a right occipital arterio-venous malformation (AVM) and seizures heralded by "lights", and experiencing "ecstasy" underwent a right occipital lobectomy after the AVM was embolized. Thereafter, seizures began with motor arrest and lip smacking, but never again with "light and ecstasy". A right temporal lobectomy and electrocorticogram (E.Co.G) were performed under local anesthesia four years after occipital lobectomy. Abundant spiking activity was recorded from the right hippocampus which showed gliosis and neuronal loss in the pathology studies. Electrical stimulation of the lateral and basal temporal cortices failed to elicit the vision of "lights" or the experience of "ecstasy". The patient has had two seizures in the last two years as a result of a lapse in taking his anti-convulsant medication. He now lives alone, seizure-free. The possible abnormally induced functional network organization and structures involved in the production of the "ecstasy" phenomenon are discussed.- - - - - - - - - - ranking = 0.032479901326017keywords = organ (Clic here for more details about this article) |
5/30. Expanded mobius syndrome.A woman presented at 33 weeks gestation with reduced fetal movements and a nonreactive nonstress test. Fetal ultrasound examination revealed a peculiar unilateral arm tremor. At emergency cesarean section, performed for fetal indications, a 1,672-gm male infant was delivered requiring intubation for feeble respiratory effort. After delivery the neonate was transiently hypertonic and later hypotonic. Continuing ventilatory support at minimal settings was necessary. The work-up for aneuploidy, metabolic disorders, and infection was negative. The infant died after being removed from ventilatory support on day 22. Postmortem examination revealed extensive bilateral brain gliosis and mineralization without evidence of inflammation, partial absence of cranial nerve nuclei III-XI, and a total absence of cranial nerve roots VI-XI. Together these finding are compatible with a diagnosis of expanded mobius syndrome.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
6/30. Neuropathological findings in a patient with epilepsy and the Parry-Romberg syndrome.PURPOSE: The Parry-Romberg syndrome is an unusual disorder frequently associated with epilepsy. The origin of this disease, and the cause of epilepsy, are unknown. This study is the first reported case of the Parry-Romberg syndrome, with intractable temporal lobe epilepsy, in which detailed microanatomic analyses have been performed on resected brain tissue obtained after surgical intervention. methods: Standard histopathologic methods and correlative light and electron microscopy, combined with immunocytochemical techniques, were used to study in detail the synaptic microorganization of the resected hippocampal formation. RESULTS: After surgery, the patient was seizure free (follow-up period of 4 years and 7 months). The resected temporal lobe showed a variety of dramatic microanatomic alterations (small groups of ectopic cells, neuronal loss, gliosis, and activated microglial cells) in mesial structures, including the entorhinal cortex, subiculum, and dentate gyrus. At the electron-microscopic level, we found that in the dentate gyrus, the number of synapses in the cell-sparse region adjacent to the ectopic mass of neurons was almost twice that found in the molecular and polymorph cell layers, indicating the intrusion of neuritic processes and synapse formation. In addition, the symmetrical axosomatic synapses characteristically found on granule cells, which are likely derived from gamma-aminobutyric acid (GABA)ergic inhibitory basket cells, were not observed. CONCLUSION: The complete seizure relief after surgery suggests that the pacemaker region(s) of seizure activity were within the resected tissue. However, we do not know which of the multiple neuropathologic findings reported here were the primary cause of seizure activity. Nevertheless, the changes found in the dentate gyrus circuitry appear to be among the most important alterations that would lead to epilepsy.- - - - - - - - - - ranking = 0.032479901326017keywords = organ (Clic here for more details about this article) |
7/30. xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.This is the first detailed description of the neuropathology of a patient with xeroderma pigmentosum/cockayne syndrome complex (XP/CS). This 6-year-old boy's clinical course, followed from infancy to death, is compared with that of the eight other known cases of XP/CS. Normal at birth, he developed the cutaneous sun sensitivity of XP in infancy and the infantile CS phenotype in early childhood. He had the characteristic CS facies, cachexia, failure of somatic and brain growth, spasticity, ataxia, pigmentary retinopathy, hearing loss, mixed peripheral neuropathy, and myopathy. Like his clinical phenotype, the neuropathology was also that of CS despite an XPG genotype. His brain weighed 350 grams (considerably less than the expected weight at birth) and revealed hydrocephalus, tigroid-type demyelination, dystrophic calcification and widespread neuronal loss and gliosis with hyperchromatic glial and endothelial nuclei. Peripheral nerve showed myelinopathy with axonal degeneration, and skeletal muscle had mixed myopathic and neuropathic features. Ophthalmic pathology disclosed cataracts, iris and ciliary body atrophy, inner retinal atrophy and gliosis, retinal pigment epithelial atrophy, and optic nerve atrophy. Molecular studies, which have appeared elsewhere, do not provide full understanding of the pathophysiology of the postnatal growth failure, cachexia, precocious aging, selectivity of tissues affected (such as myelinated axons), and other manifestations of this devastating illness.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
8/30. chorea-acanthocytosis: neuropathology of brain and peripheral nerve.We report the neuropathological data from a familial case of chorea-acanthocytosis with central and peripheral nervous system involvement. At the age of 34, the patient underwent a peripheral nerve biopsy which was analyzed by light- and electron microscopy. These studies showed a selective reduction in the large diameter myelinated fibre population, with several clusters of regeneration. Remyelinating fibers surrounded by flattened Schwann cell processes were also present. The patient died at the age of 44, and post-mortem macroscopic examination of the brain showed marked atrophy of the caudate. Histological examination of paraffin sections showed almost complete depletion of neurons in the caudate, with severe astrocytic gliosis. The putamen and pallidum were slightly less severely depleted of neurons, but with marked astrocytic gliosis. Diffuse mild gliosis was also evidenced, by immunohistochemistry with anti-GFAP, in the thalamus and subcortical white matter.- - - - - - - - - - ranking = 5keywords = nerve (Clic here for more details about this article) |
9/30. Subacute rhombencephalitis optica responsive to intravenous immunoglobulins.A 53-year-old man presented with optic neuritis, followed within 10 weeks by a subacute progression of weakness, ataxia, and multiple cranial nerve palsies. Cranial magnetic resonance imaging demonstrated multiple T2-hyperintense lesions extending from the ponto-medullary junction to the thalamus and internal capsule. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with elevated protein content. A brain biopsy revealed inflammatory changes. After a month long period of inexorable worsening, the patient was treated with intravenous immunoglobulins (2 g/kg). He responded to treatment, and recovered over the subsequent 3 months. The patient's response to treatment suggests that intravenous immunoglobulins should be considered in patients with inflammatory brain disorders.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
10/30. Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome).The nervous system in patients with cerebro-hepato-renal syndrome appeared to be affected at various tissue levels. There was evidence of a migrational disorder manifested by polymicrogyria and lack of normal neuronal maturation. There was dysmyelination of the white matter associated with accumulation of neutral fat in astrocytes. Within the peripheral nerves, masses of tangled neurofilaments producing dystrophic axons were demonstrated by electron microscopy. These findings could be explained on the basis of a genetic metabolic defect, one that involved particularly the amino acids. The defect may have interfered with the normal intercellular reaction during embryogenesis resulting in the malformation of multiple organs. The same metabolic abnormality could have caused the hepatic damage and disturbance in normal myelination during the neonatal period.- - - - - - - - - - ranking = 1.032479901326keywords = nerve, organ (Clic here for more details about this article) |
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